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Wilson disease (WD) is an autosomal recessive disorder due to a defect of copper biliary excretion and is responsible for toxic accumulation of copper in several tissues, principally in liver, brain, and kidney. The diagnosis of WD is based on the plasma levels of ceruloplasmin and copper, but is not always reliable, since individuals heterozygous for the disease are often indistinguishable biochemically from patients. 1 Early treatment with chelating agents such as penicillamine or zinc may prevent irreversible damage in patients' tissues. 1
The gene involved in WD is located on 13q 14.3 and is a putative copper transporting P-type ATPase. 2 There is an allelic heterogeneity, …
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